Linked Data
ClinVar Variation Id:
1061323
dbSNP Id:
rs766793013
ExAC:
1:197403902 C / T
gnomAD v2:
1-197403902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434772C>T , CM000663.2:g.197434772C>T | GRCh38 |
| NC_000001.10:g.197403902C>T , CM000663.1:g.197403902C>T | GRCh37 |
| NC_000001.9:g.195670525C>T | NCBI36 |
| NG_008483.1:g.171495C>T | |
| NG_008483.2:g.238311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2909C>T MANE Select | ENSP00000356370.3:p.Thr970Ile | |
| ENST00000638467.1:c.2909C>T | ENSP00000491102.1:p.Thr970Ile | |
| ENST00000681519.1:c.1790C>T | ENSP00000505267.1:p.Thr597Ile | |
| ENST00000367397.1:c.1052C>T | ENSP00000356367.1:p.Thr351Ile | |
| ENST00000367399.6:c.2573C>T | ENSP00000356369.2:p.Thr858Ile | |
| ENST00000367400.7:c.2909C>T | ENSP00000356370.3:p.Thr970Ile | |
| ENST00000484075.5:c.2909C>T | ENSP00000433932.1:p.Thr970Ile | |
| ENST00000535699.5:c.2837C>T | ENSP00000438786.1:p.Thr946Ile | |
| ENST00000538660.5:c.2129-828C>T | ENSP00000438091.1:n.2129-828C>T | |
| NM_001193640.1:c.2573C>T | NP_001180569.1:p.Thr858Ile | |
| NM_001257965.1:c.2837C>T | NP_001244894.1:p.Thr946Ile | |
| NM_001257966.1:c.2129-828C>T | NP_001244895.1:n.2129-828C>T | |
| NM_201253.2:c.2909C>T | NP_957705.1:p.Thr970Ile | |
| NR_047563.1:n.2910C>T | ||
| NR_047564.1:n.3118C>T | ||
| XM_011509365.1:c.2909C>T | XP_011507667.1:p.Thr970Ile | |
| XM_011509366.1:c.2909C>T | XP_011507668.1:p.Thr970Ile | |
| XM_011509367.1:c.2909C>T | XP_011507669.1:p.Thr970Ile | |
| XM_011509368.1:c.2327C>T | XP_011507670.1:p.Thr776Ile | |
| XM_011509369.1:c.1352C>T | XP_011507671.1:p.Thr451Ile | |
| XM_011509365.2:c.2909C>T | XP_011507667.1:p.Thr970Ile | |
| XM_011509369.2:c.1352C>T | XP_011507671.1:p.Thr451Ile | |
| XM_017000851.1:c.2066C>T | XP_016856340.1:p.Thr689Ile | |
| XM_017000852.1:c.3044C>T | XP_016856341.1:p.Thr1015Ile | |
| NM_201253.3:c.2909C>T MANE Select | NP_957705.1:p.Thr970Ile | |
| NM_001193640.2:c.2573C>T | NP_001180569.1:p.Thr858Ile | |
| NM_001257965.2:c.2837C>T | NP_001244894.1:p.Thr946Ile | |
| NR_047563.2:n.2862C>T | ||
| NR_047564.2:n.3070C>T | ||
| NM_001257966.2:c.2129-828C>T | NP_001244895.1:n.2129-828C>T |